Enzyme therapy for lysosomal acid lipase deficiency in the mouse.

  title={Enzyme therapy for lysosomal acid lipase deficiency in the mouse.},
  author={Heng Du and Susan Schiavi and Mark Levine and Jayshree Mishra and Martin Heur and Gregory A. Grabowski},
  journal={Human molecular genetics},
  volume={10 16},
Lysosomal acid lipase (LAL) is the critical enzyme for the hydrolysis of the triglycerides (TG) and cholesteryl esters (CE) delivered to lysosomes. Its deficiency produces two human phenotypes, Wolman disease (WD) and cholesteryl ester storage disease (CESD). A targeted disruption of the LAL locus produced a null (lal( -/-)) mouse model that mimics human WD/CESD. The potential for enzyme therapy was tested using mannose terminated human LAL expressed in Pichia pastoris (phLAL), purified, and… CONTINUE READING


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